Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_003980.6
p.R271P
c.812G>C
NM_003980.6
p.Y99N
c.295T>A
NM_003980.6
p.R580W
c.1738A>T
NM_003980.6
p.P24P
c.72C>T
NM_003980.6
p.P55delFs
c.164delG
NM_003980.6
p.E75K
c.223G>A
NM_003980.6
p.R77W
c.229C>T
NM_003980.6
p.E78E
c.234G>A
NM_003980.6
p.E90D
c.270A>T
NM_003980.6
p.K101M
c.302A>T
NM_003980.6
p.E112K
c.334G>A
NM_003980.6
p.R120M
c.359G>T